BFM 89.9

HIGHLIGHTS 
Podcast  >  Bigger Picture  >  Health & Living  >  Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist | Yap Sook Yee, Parent and SMA Advocate

21-Aug-24 16:00

Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

For a family of a child with spinal muscular atrophy (SMA), life could be divided into moments of Before and After. Before refers to the period when the parents were expecting their child and before he/she came to be diagnosed with this genetic condition. After, of course, heralds how life changed following the diagnosis. In both periods, families have very little knowledge, information and guidance related to SMA, whether in terms of prevention through genetic screening, or navigating the journey of lifelong support and interventions. In conjunction with August being SMA Awareness Month, we speak to Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist and Yap Sook Yee, Parent and SMA Advocate, on the realities of screening, diagnosis and preparing for the journey ahead. 


Image credit: ap Sook Yee & Edmund Lim

Produced by: Tee Shiao Eek

Presented by: Tee Shiao Eek


This and more than 60,000 other podcasts in your hand. Download the all new BFM mobile app.

Categories:  wellnessmanaging diseasemedical advances

Tags:  orphan drugthe bigger picturehealth and livingspinal muscular atrophyrare diseasedisabilitygenetic diseasegenetic testing





Play / Pause

Listen now : BFM 89.9 -- The Business Station

Today’s Shows



11:00 AM

Best of Enterprise

(REPEAT) Brenda James from Nook Flowers joins us to discuss the intricacies of "Responsible Floristry", from championing local Cameron Highlands growers to championing circular based systems.

12:00 PM

Popcorn Culture

(REPEAT) A Chinese Odyssey + Movies to Watch With Your Family

1:00 PM

Cruise Control

(REPEAT) The smart #5 Brabus is one of the first few EVs that has gotten Daniel Fernandez purring with excitement. Tune in to hear his thoughts on this car.

2:00 PM

Matt-Splained

(REPEAT) With holidays around the corner, Matt and Rich look at some of the ways you can use the break to bust open your digital bad habits and reset your devices so they work for you instead of against you.

3:00 PM

Earth Matters

(REPEAT) Raids, corruption probes and an import ban have put Malaysia’s e-waste trade in focus. We explore the scale of the problem in Malaysia, and why it’s been happening.

4:00 PM

Bar None

(REPEAT) Retired bowler Esther Cheah joins us again to share what's her training routine like back then!

5:00 PM

BBC World Service

Datshiane Navanayagam meets two female genealogists from the US and Ireland to discuss the desire many of us have to dig into our heritage.